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BioMed Research International
Volume 2013 (2013), Article ID 865181, 4 pages
QPLOT: A Quality Assessment Tool for Next Generation Sequencing Data
1Department of Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA
2Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA
Received 13 September 2013; Accepted 15 October 2013
Academic Editor: Zhongming Zhao
Copyright © 2013 Bingshan Li et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- S. B. Ng, A. W. Bigham, K. J. Buckingham et al., “Exome sequencing identifies MLL2 mutations as a cause of kabuki syndrome,” Nature Genetics, vol. 42, no. 9, pp. 790–793, 2010.
- S. B. Ng, K. J. Buckingham, C. Lee et al., “Exome sequencing identifies the cause of a mendelian disorder,” Nature Genetics, vol. 42, no. 1, pp. 30–35, 2010.
- J. A. Tennessen, A. W. Bigham, T. D. O’Connor, et al., “Evolution and functional impact of rare coding variation from deep sequencing of human exomes,” Science, vol. 337, no. 6090, pp. 64–69, 2012.
- M. J. Emond, T. Louie, J. Emerson, W. Zhao, R. A. Mathias, et al., “Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis,” Nature Genetics, vol. 44, pp. 886–889, 2012.
- D. M. Muzny, M. N. Bainbridge, K. Chang, et al., “Comprehensive molecular characterization of human colon and rectal cancer,” Nature, vol. 487, pp. 330–337, 2012.
- P. S. Hammerman, M. S. Lawrence, D. Voet, et al., “Comprehensive genomic characterization of squamous cell lung cancers,” Nature, vol. 489, pp. 519–525, 2012.
- G. R. Abecasis, D. Altshuler, A. Auton, et al., “A map of human genome variation from population-scale sequencing,” Nature, vol. 467, pp. 1061–1073, 2010.
- G. R. Abecasis, A. Auton, L. D. Brooks, et al., “An integrated map of genetic variation from 1,092 human genomes,” Nature, vol. 491, pp. 56–65, 2012.
- A. Simon, http://www.bioinformatics.babraham.ac.uk/projects/fastqc/.
- M. P. Cox, D. A. Peterson, and P. J. Biggs, “SolexaQA: at-a-glance quality assessment of lllumina second-generation sequencing data,” BMC Bioinformatics, vol. 11, article 485, 2010.
- T. Lassmann, Y. Hayashizaki, and C. O. Daub, “SAMStat: monitoring biases in next generation sequencing data,” Bioinformatics, vol. 27, no. 1, pp. 130–131, 2011.
- A. Wysoker, http://picard.sourceforge.net.
- H. Li and R. Durbin, “Fast and accurate short read alignment with Burrows-Wheeler transform,” Bioinformatics, vol. 25, no. 14, pp. 1754–1760, 2009.
- J. K. Pickrell, J. C. Marioni, A. A. Pai et al., “Understanding mechanisms underlying human gene expression variation with RNA sequencing,” Nature, vol. 464, no. 7289, pp. 768–772, 2010.